Gene Mutation Can Cause Permanent Brain Damage After Concussion Parents should determine whether their child has this mutation before starting contact sports
My primary motivation for creating this blog is to educate people so they will find out whether they or their children have this mutation, which can be easily determined with AncestryDNA or the new 23andMe kit. But first, I’ll tell you about the gene, how I discovered I had this mutation, and its impact on my life.
Mutation in Complement Component 3 (C3) Is Discovered
The mutated gene is an immune gene called Complement Component 3 (C3 for short), and my particular autosomal dominant mutation (rs147859257, K155Q) occurs in about 1/180 people (~1.7 million people in the U.S. or ~40 million in the world) but is most prevalent in those with northern European ancestry and almost nonexistent in Asians.1,2,3 I learned I had this mutation when my genome was sequenced by Illumina as an adjunct to a Future of Genomic Medicine conference. Of the 20,000+ protein-coding genes in the genome, Illumina analyzed large chunks of 1690 genes causally related to disease, including C3 since it is definitively linked to Age-related Macular Degeneration (AMD) and other disorders.1,2